RGD:8555379 Rat Genome Database

Variant: RGD:8555379 - Homo sapiens

RGD ID:

8555379

RS ID:

rs111033563

ClinVar ID:

CV15058

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HFE

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	26,093,144
GRCh38	6	26,092,916

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Prevalence	Trait Synonyms
NG_008720.2:g.10636A>C NC_000006.12:g.26092916A>C NC_000006.11:g.26093144A>C NP_000401.1:p.Gln283Pro More...	07/03/2023	intron\|intron variant\|missense\|missense variant	pathogenic\|likely pathogenic	1:200 to 1:500 for the c282y variant	HFE-Associated Hereditary Hemochromatosis; none provided

Disease Annotations Click to see Annotation Detail View

hemochromatosis (IAGP)

hemochromatosis type 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	HFE
Accession:	NM_139009
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	260

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLPLGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFW TIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYL ERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGT YQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYV LAERE*

Gene Symbol:	HFE
Accession:	NM_139010
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	103

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLLPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNG DGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMG HYVLAERE*

Gene Symbol:	HFE
Accession:	NM_139007
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	195

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDA KEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFII LRKRQGSRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_001300749
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL FIGILFIILRKRQGSSF*

Gene Symbol:	HFE
Accession:	NM_139006
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	269

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPK DVLPNGDGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQG SRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_001384164
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL FIGILFIILRKRQGSRGAMGHYVLAERF*

Gene Symbol:	HFE
Accession:	NM_001406751
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQEGSESSSLPGKVTTLRCRALNYYPQNITMKWLKDK QPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIG ILFIILRKRQGSRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_000410
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL FIGILFIILRKRQGSRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_139003
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQG WITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAE RE*

Gene Symbol:	HFE
Accession:	NM_139008
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	181

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDG TYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHY VLAERE*

Gene Symbol:	HFE
Accession:	NM_139004
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	191

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFE PKDVLPNGDGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKR QGSRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_001406752
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	195

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDA KEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCPVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFII LRKRQGSSF*

Gene Symbol:	HFE
Accession:	XR_241893
Location:	EXON;NON-CODING

Gene Symbol:	HFE
Accession:	NM_139011
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:9546397	PMID:12737937	PMID:15965644	PMID:25850353	PMID:28492532	PMID:33791166

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000000036	CLINVAR
	RCV001050090	CLINVAR
	RCV003884332	CLINVAR
dbSNP (RS)	rs111033563	CLINVAR
MedGen	C0392514	CLINVAR
	C3469186	CLINVAR
	C3661900	CLINVAR
NCBI Gene	HFE	CLINVAR
OMIM	235200	CLINVAR
	613609	CLINVAR
OMIM Allele	613609.0011	CLINVAR
SNOMED CT	35400008	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message

Variant: RGD:8555379 - Homo sapiens

Imported Disease Annotations - ClinVar